ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3663C>T (p.Asn1221=)

gnomAD frequency: 0.00001  dbSNP: rs780527525
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001171108 SCV001333787 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-04-25 criteria provided, single submitter clinical testing
Invitae RCV001452475 SCV001656142 likely benign Adams-Oliver syndrome 5 2018-06-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001452475 SCV002554476 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270950 SCV002554477 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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